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EFS (embryonal Fyn-associated substrate)

Identity

Other namesCAS3
CASS3
EFS1
EFS2
HEFS
SIN
HGNC (Hugo) EFS
LocusID (NCBI) 10278
Atlas_Id 40417
Location 14q11.2
Location_base_pair Starts at 23825609 and ends at 23834842 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EFS   16898
Cards
Entrez_Gene (NCBI)EFS  10278  embryonal Fyn-associated substrate
GeneCards (Weizmann)EFS
Ensembl hg19 (Hinxton)ENSG00000100842 [Gene_View]  chr14:23825609-23834842 [Contig_View]  EFS [Vega]
Ensembl hg38 (Hinxton)ENSG00000100842 [Gene_View]  chr14:23825609-23834842 [Contig_View]  EFS [Vega]
ICGC DataPortalENSG00000100842
TCGA cBioPortalEFS
AceView (NCBI)EFS
Genatlas (Paris)EFS
WikiGenes10278
SOURCE (Princeton)EFS
Genomic and cartography
GoldenPath hg19 (UCSC)EFS  -     chr14:23825609-23834842 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFS  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblEFS - 14q11.2 [CytoView hg19]  EFS - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIEFS [Mapview hg19]  EFS [Mapview hg38]
OMIM609906   
Gene and transcription
Genbank (Entrez)AA470981 AB001466 AB001467 AI808817 AK295933
RefSeq transcript (Entrez)NM_001277174 NM_005864 NM_032459
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)EFS
Cluster EST : UnigeneHs.24587 [ NCBI ]
CGAP (NCI)Hs.24587
Alternative Splicing : Fast-db (Paris)GSHG0009248
Alternative Splicing GalleryENSG00000100842
Gene ExpressionEFS [ NCBI-GEO ]     EFS [ SEEK ]   EFS [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43281 (Uniprot)
NextProtO43281  [Medical]
With graphics : InterProO43281
Splice isoforms : SwissVarO43281 (Swissvar)
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)CAS_DUF3513    SH3_domain   
Related proteins : CluSTrO43281
Domain families : Pfam (Sanger)DUF3513 (PF12026)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam12026    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
DMDM Disease mutations10278
Blocks (Seattle)O43281
Human Protein AtlasENSG00000100842
Peptide AtlasO43281
HPRD09932
IPIIPI00011652   IPI00219428   IPI00910340   
Protein Interaction databases
DIP (DOE-UCLA)O43281
IntAct (EBI)O43281
FunCoupENSG00000100842
BioGRIDEFS
IntegromeDBEFS
STRING (EMBL)EFS
Ontologies - Pathways
QuickGOO43281
Ontology : AmiGOprotein binding  cytoplasm  cell adhesion  SH3 domain binding  protein domain specific binding  intracellular signal transduction  
Ontology : EGO-EBIprotein binding  cytoplasm  cell adhesion  SH3 domain binding  protein domain specific binding  intracellular signal transduction  
Protein Interaction DatabaseEFS
DoCM (Curated mutations)EFS
Wikipedia pathwaysEFS
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerEFS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFS
dbVarEFS
ClinVarEFS
1000_GenomesEFS 
Exome Variant ServerEFS
SNP (GeneSNP Utah)EFS
SNP : HGBaseEFS
Genetic variants : HAPMAPEFS
Genomic Variants (DGV)EFS [DGVbeta]
Mutations
ICGC Data PortalEFS 
TCGA Data PortalEFS 
Tumor PortalEFS
Somatic Mutations in Cancer : COSMICEFS 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:23825609-23834842
CONAN: Copy Number AnalysisEFS 
Mutations and Diseases : HGMDEFS
OMIM609906   
MedgenEFS
NextProtO43281 [Medical]
GENETestsEFS
Disease Genetic AssociationEFS
Huge Navigator EFS [HugePedia]  EFS [HugeCancerGEM]
snp3D : Map Gene to Disease10278
DGIdb (Drug Gene Interaction db)EFS
General knowledge
Homologs : HomoloGeneEFS
Homology/Alignments : Family Browser (UCSC)EFS
Phylogenetic Trees/Animal Genes : TreeFamEFS
Chemical/Protein Interactions : CTD10278
Chemical/Pharm GKB GenePA134887136
Clinical trialEFS
Cancer Resource (Charite)ENSG00000100842
Other databases
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
CoreMineEFS
GoPubMedEFS
iHOPEFS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 14:21:58 CEST 2015

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